NM_004483.5(GCSH):c.159C>T (p.Phe53=)
|
rs8177876
|
0.05863
|
NM_004483.5(GCSH):c.252T>C (p.Tyr84=)
|
rs8177907
|
0.03948
|
NM_004483.5(GCSH):c.261C>G (p.Leu87=)
|
rs8177908
|
0.03948
|
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)
|
rs8177877
|
0.03699
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe)
|
rs368716465
|
0.00004
|
NM_004483.5(GCSH):c.228+8A>C
|
rs375928222
|
0.00004
|
NM_004483.5(GCSH):c.425-18G>A
|
rs200332491
|
0.00004
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln)
|
rs1189328619
|
0.00002
|
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys)
|
rs760566469
|
0.00002
|
NM_004483.5(GCSH):c.153T>C (p.Arg51=)
|
rs142243166
|
0.00001
|
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp)
|
rs1236344907
|
0.00001
|
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn)
|
rs779721507
|
0.00001
|
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)
|
rs753037667
|
0.00001
|
NM_004483.5(GCSH):c.400G>A (p.Val134Ile)
|
rs766903708
|
0.00001
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
NM_004483.5(GCSH):c.425-8G>C
|
rs770923322
|
0.00001
|
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
|
rs770835365
|
0.00001
|
GCSH, COMPLEX REARRANGEMENT
|
|
|
NC_000016.10:g.(?_81082846)_(81096298_?)del
|
|
|
NC_000016.9:g.(?_81121196)_(81129883_?)del
|
|
|
NM_004483.5(GCSH):c.149-3T>C
|
rs1972381011
|
|
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys)
|
rs1972380968
|
|
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile)
|
rs145768524
|
|
NM_004483.5(GCSH):c.246T>A (p.Val82=)
|
rs536733893
|
|
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe)
|
rs1972310010
|
|
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile)
|
rs2151769189
|
|
NM_004483.5(GCSH):c.292+10C>T
|
rs571999768
|
|
NM_004483.5(GCSH):c.292+7G>A
|
rs1972309218
|
|
NM_004483.5(GCSH):c.293-16dup
|
rs202181338
|
|
NM_004483.5(GCSH):c.293-4T>C
|
rs1555529308
|
|
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly)
|
rs747131765
|
|
NM_004483.5(GCSH):c.318G>A (p.Val106=)
|
|
|
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)
|
rs1972233022
|
|
NM_004483.5(GCSH):c.375A>G (p.Glu125=)
|
rs868224309
|
|
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
|
rs749405278
|
|
NM_004483.5(GCSH):c.425-1G>T
|
rs386833859
|
|
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)
|
|
|
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro)
|
rs944048995
|
|
NM_004483.5(GCSH):c.502A>G (p.Ile168Val)
|
rs1972198288
|
|
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
|
rs1322444223
|
|